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Case-inspired exploration of renin mutations in autosomal dominant tubulointerstitial kidney disease: not all paths lead to the endoplasmic reticulum.

Pediatric nephrology (Berlin, Germany) - 1 Aug 2024

Niedbalska-Tarnowska Joanna, Jakubowska Anna, Majkowski Michał, Pęcherz Michalina, Medyńska Anna, Mroczek Robert, Kiliś-Pstrusińska Katarzyna, Cebrat Małgorzata, Łaszkiewicz Agnieszka

Abstract excerpt

BACKGROUND: Autosomal dominant tubulointerstitial kidney disease (ADTKD) results from mutations in various genes, including REN, UMOD, MUC1, and HNF1B. ADTKD due to REN mutations (ADTKD-REN) is often characterized as a proteinopathy that triggers the endoplasmic reticulum stress (ERS) cascade, potentially sharing similarities with ADTKD-UMOD and ADTKD-MUC1 at the cellular level. This study, inspired by a patient...

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Source

Identifiers

PMID: 38520530
DOI: 10.1007/s00467-024-06350-4

Genes

REN
CRELD2
MANF
MUC1
UMOD
HNF1B

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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